Gastrostomy tubes (G-tubes) and Nissen fundoplication are common surgical interventions for feeding difficulties and gastroesophageal reflux disease in children. A potential yet often missed, complication of these procedures is dumping syndrome. We present 3 pediatric patients with postprandial hypoglycemia due to late dumping syndrome after gastric surgeries. All patients received gastrostomy tubes for feeding intolerance 2 had Nissen fundoplication for gastroesophageal reflux disease, and 1 had tracheoesophageal repair. All patients underwent multiple imaging studies in an to attempt to diagnose dumping syndrome. Continuous glucose monitoring (CGM) was essential for detecting asymptomatic hypoglycemia and glycemic excursions occurring with feeds that would have gone undetected with point-of-care (POC) blood glucose checks. CGM was also used to monitor the effectiveness of treatment strategies and drive treatment plans. These cases highlight the utility of CGM in diagnosing postprandial hypoglycemia due to late dumping syndrome, which is infrequently diagnosed by imaging studies and intermittent POC blood glucose measurements.Anti-pituitary-specific transcription factor 1 (PIT-1) hypophysitis (anti-PIT-1 antibody syndrome) is a thymoma-associated autoimmune disease characterized by acquired growth hormone (GH), prolactin (PRL), and thyrotropin (TSH) deficiencies due to autoimmunity against PIT-1. Ectopic expression of PIT-1 in the thymoma plays a causal role in development of the disease. Here, we report 2 cases of anti-PIT-1 hypophysitis exhibiting as a form of paraneoplastic syndrome with conditions other than thymoma. A 79-year-old woman (case 1) and an 86-year-old man (case 2) were referred with a suspicion of anti-PIT-1 hypophysitis because of acquired GH, PRL, and TSH deficiencies. Case 1 was complicated by diffuse large B-cell lymphoma (DLBCL) of the bladder and case 2 was diagnosed with malignancy with multiple metastases of unknown origin. Because circulating anti-PIT-1 antibody was detected, both patients were diagnosed with anti-PIT-1 hypophysitis. Circulating PIT-1-reactive T cells were detected in case 1 via enzyme-linked immunospot (ELISPOT) assay. Interestingly, the PIT-1 protein was ectopically expressed in the DLBCL cells of case 1, whereas DLBCL tissues derived from patients without anti-PIT-1 hypophysitis were negative for PIT-1. In case 2, the materials were not available because of best supportive care was under way. These data show that anti-PIT-1 hypophysitis is associated not only with thymoma but also with other malignancies. Additionally, the ectopic expression of PIT-1 in the DLBCL tissues and presence of PIT-1-reactive T cells suggested that the underlying mechanisms were similar to those observed in thymoma. Thus, anti-PIT-1 hypophysitis is defined as a form of paraneoplastic syndrome.Autosomal dominant hypocalcemia (ADH) is caused by gain-of-function mutations of the calcium sensing receptor (CaSR). It is characterized by hypercalciuria in spite of hypocalcemia. Vitamin D deficiency increases calcium reabsorption in the distal tubules of the kidneys, resulting in hypocalciuria.
A 38-year-old female proband had hypocalcemia, hypocalciuria, and vitamin D deficiency. Her father and brother also had hypocalcemia, but her mother was normocalcemic. We analyzed the gene abnormality in this family. Polymerase chain reaction (PCR) and sequence analysis were performed to explore the gene mutation. Mutagenesis, transfection, and functional analysis were performed on the discovered genetic abnormalities.
PCR and sequence analysis revealed that the proband, her father, and brother had a novel heterozygous mutation of the genes that causes threonine to asparagine substitution at codon 186 (T186N). Using HEK293 cells transfected with wild-type or T186N complementary DNA, we assessed the intracellular Caconcentration in response to changes in the extracellular Caconcentration. The cells transfected mutant gene had higher activity than that of wild-type. Therefore, we determined our patient had ADH with a novel mutation of the gene and hypocalciuria resulting from a vitamin D deficiency. We administered vitamin D to the proband, which caused elevation of her urinary calcium level, a typical finding of ADH.
Vitamin D deficiency was suggested to potentially mask hypercalciuria in ADH. Hypocalcemia with vitamin D deficiency should be diagnosed with care.
Vitamin D deficiency was suggested to potentially mask hypercalciuria in ADH. Hypocalcemia with vitamin D deficiency should be diagnosed with care.In 3 Somalian siblings with severe nongoitrous congenital hypothyroidism, exome sequencing identified a variant in TSHR predicted to be benign in isoform 3 but leading to an intronic mutation in isoform 1 (NM_00369c.692 + 130C&gt;A), which is the isoform expressed in the thyroid. This mutation creates a pseudoexon that results in a protein that, if transcribed, would lack the transmembrane domain, thereby hampering its expression at the cell surface. https://www.selleckchem.com/products/arn-509.html Our findings illustrate that the interpretation of exome analysis requires knowledge of the relevant isoform expression and of the biology of the disease. This is the first description of a deep intronic mutation creating a pseudoexon and inactivating the thyroid stimulating hormone (TSH) receptor.For situations of cone-beam scanning where the measurements are incomplete, we propose a method to quantify the severity of the missing information at each voxel. This incompleteness metric is geometric; it uses only the relative locations of all cone-beam vertices with respect to the voxel in question, and does not apply global information such as the object extent or the pattern of incompleteness of other voxels. The values are non-negative, with zero indicating "least incompleteness," i.e. minimal danger of incompleteness artifacts. The incompleteness value can be related to the severity of the potential reconstruction artifact at the voxel location, independent of reconstruction algorithm. We performed a computer simulation of x-ray sources along a circular trajectory, and used small multi-disk test-objects to examine the local effects of data incompleteness. The observed behavior of the reconstructed test-objects quantitatively matched the precalculated incompleteness values. A second simulation of a hypothetical SPECT breast imaging system used only 12 pinholes.